Abstract

Clinical vignette: An 8-year-old boy presents to the pediatric ICU after two days of cough with increasing secretions. The patient is progressing to respiratory failure and requires noninvasive mechanical ventilation. His past medical history is remarkable for premature birth at 25 and 6/7 weeks gestational age, cerebral palsy, developmental delay, epilepsy, and gastrostomy tube dependence. His chest x-ray is remarkable for multifocal opacities that are consistent with atelectasis. A complete blood count reveals a wbc count of 9.2 with a normal differential, Hg of 11.7, and platelet count of 276,000. A respiratory viral panel from a nasal swab returns positive for rhinovirus. Additional patient history from the parents uncovers that he has been hospitalized three times over the course of the past 2 years with a similar presentation.

Abstract

Clinical vignette: A 49-year-old man with stage IV BRAFV600E-driven melanoma was initiated on twice-daily 960 mg of vemurafenib for treatment of progressive and recurrent subcutaneous metastatic disease of the left lower extremity. The patient’s melanoma responded well to targeted BRAF inhibition. At treatment onset, hematologic parameters were all within normal limits; however, within three months of initiating therapy, wbc were found to be elevated (to 20 K) with sustained lymphocytosis of mature phenotype. Immunophenotypic analysis was consistent with chronic lymphocytic leukemia (CLL), and FISH results revealed presence of the CLL-associated deletion in chromosome 13q14 as well as in 2p33. Vemurafenib was withdrawn after approximately one year of therapy, and subsequently, his peripheral lymphocytosis resolved and CLL regressed. Nevertheless, a monoclonal B cell population persisted even 732 days after discontinuation of vemurafenib.

Abstract

Clinical vignette: A 51-year-old man with right-sided sudden hearing loss presents to the otology clinic. He has a 4-year history of episodic vertigo of several hours’ duration and fluctuating, progressive sensorineural hearing loss in his left ear. The vertigo attacks have not occurred for the last 18 months, and the left ear hearing is consistently poor. The patient’s right ear hearing has dropped in the last 36 hours. MRI imaging of brain and temporal bone are normal. A 2-week “burst and taper” of oral prednisone is administered with no effect. Over the next 3 months, serial audiograms show rapidly progressive loss of threshold and word recognition scores on the right side. A trial of high-dose prednisone (60 mg/d for 30 days) results in full recovery of the right ear hearing and substantial improvement in the left ear. As the prednisone dose is slowly tapered over several months, the hearing drops again.

Abstract

A 30-year-old primigravid (G1P000) female with infertility secondary to her partner’s oligospermia and her chronic anovulation presented 13 days after an oocyte retrieval for in vitro fertilization (IVF) with a positive home pregnancy test, abdominal distention, a 5-pound weight gain, nausea, shortness of breath, and reduced urinary frequency. Her IVF cycle included the usual cocktail for gonadotropin stimulation and was uncomplicated, except for excessively stimulated ovaries that led to a peak estradiol level of 6,000 pg/ml and the retrieval of 30 oocytes. Her past history was relevant only for anovulation due to polycystic ovarian syndrome (PCOS), though her preprocedure body mass index was normal at 21 kg/m2. Pelvic ultrasound revealed abundant ascites and enlarged ovaries, at 8 cm average diameter. Serum human chorionic gonadotropin (hCG) concentration was 200 mIU/ml; she was hemoconcentrated (hemoglobin 16 g/dl), with normal liver function and coagulation testing. An ultrasound guided, transvaginal paracentesis removed 4 liters of straw-colored fluid, resulting in significant short-term symptom relief.

Abstract

A 42-year-old premenopausal woman with osteogenesis imperfecta presents to the metabolic bone clinic. She has a daughter with osteogenesis imperfecta who is seen regularly in a specialist pediatric clinic, but the patient herself hasn’t had a clinical consultation in years. She has pain and stiffness in her back and is worried for her future bone health. The patient asks, “Am I going to fall apart?” She had numerous fractures in childhood, including fractures of her femur and wrist; fractured her ankles several times in her late teens; and had occasional fractures in adulthood. Her last fracture was a comminuted fracture of her humerus three years ago, when she stumbled and fell forward onto her hands and knees. The woman is hyperextensible and thinks her ankles feel weak. Her bone mineral density T scores are –2.6 at the lumbar spine and –1.9 at the total hip, and spine imaging shows several vertebral endplate deformities, but overall preservation of vertebral height. What are the available pharmacological and nonpharmacological strategies to preserve her skeletal health and function?

Abstract

A 29-year-old man with recently diagnosed HIV infection and a CD4 cell count of 225/mm3 began treatment with atazanavir (300 mg), ritonavir (100 mg), emtricitabine (200 mg), and tenofovir (300 mg) daily. For 18 months, he was treatment adherent and his plasma HIV RNA level was below the limit of detection. He then began a relationship with a new partner, who introduced him to methamphetamines. His medication adherence became erratic, and he missed appointments in clinic. Eventually. he was hospitalized for rehabilitation, and he resumed taking his medications on schedule. Following his discharge, he was found to have a plasma HIV RNA level of 11,400 copies/ml. Genotypic resistance testing revealed only an M184V mutation associated with emtricitabine resistance. A decision regarding his next treatment regimen needs to be made.

Abstract

A 24-year-old nulliparous woman developed mildly elevated blood pressure (140–150/90–100 mmHg) without proteinuria (20 mg protein in a 24-hour urine collection) at 306/7 weeks of gestation. The fetus was small for gestational age (estimated fetal weight under the fifth percentile). At 325/7 weeks of gestation, the patient complained of epigastric pain, blood pressure was 180/110 mmHg, proteinuria was documented (780 mg protein in a 24-hour urine collection), schistocytes were detected in the peripheral smear, platelet count was 60,000 cells per mm3, and serum glutamic oxaloacetic transaminase was 234 U/l. The patient was diagnosed with severe preeclampsia/HELLP syndrome. Antenatal steroids were administered to induce fetal lung maturity. She and her family want to know the causes of this condition, what treatment is available, and whether there are any long-term implications of this diagnosis.

Abstract

A 5-year-old girl has come to you a week after completing a course of antibiotics for a febrile urinary tract infection (UTI). She now seems well and energetic. A urinalysis is now clear without traces of inflammation, including an absence of protein, blood, leukocyte esterase, and nitrites. Her urine is submitted for a test of cure and comes back positive, with over 100,000 colonies per milliliter of E. coli, the same kind of bacteria that was cultured from her urine when she was symptomatic with the UTI. Perplexed, her mother asks how her child can have bacteria once again in her bladder but not be symptomatic and asks if antibiotics are again necessary.

Abstract

A 40-year-old NIH male scientist camped and fished in a remote lake in Alaska. On his return, he developed diarrhea, cramps, and loose stools without blood or mucus in the absence of fever and was diagnosed with giardiasis. A 3-year-old female living in the Florida Keys complained of intermittent stomachaches over a 2-month period. Her stools were variably loose. The patient was diagnosed with giardiasis, which led to examination of her mother, father, and brother, who were mildly symptomatic; all 3 were subsequently diagnosed with giardiasis. The child’s only exposure was from swimming in a local community pool. A 40-year-old male from Mexico, who resided in Virginia and worked as a cook in a fast food restaurant, was diagnosed with giardiasis. He denied any symptoms and was not allowed to prepare food. Treatment with metronidazole, nitazoxanide, and albendazole failed to eradicate the infection. He was successfully treated with the combination of paromomycin and metronidazole.

Abstract

A 20-year-old man with intellectual disability and intractable multifocal epilepsy presented to a neurologist for further evaluation and management. His seizures began at 4 months, the night after his first DPT vaccine, and he continued to have frequent tonic-clonic seizures throughout his life. Several weeks after his visit, he was found facedown on the floor, dead, by his family. His autopsy was unremarkable, but genetic testing revealed a frame shift mutation in SCN1A, consistent with severe myoclonic epilepsy of infancy (Dravet syndrome).